ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) (rs587777458)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034630 SCV000814070 pathogenic Familial focal epilepsy with variable foci 2019-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1087*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant nocturnal frontal lobe epilepsy in a family (PMID: 24814846). ClinVar contains an entry for this variant (Variation ID: 139433). Experimental studies have shown that this nonsense change is targeted through nonsense-mediated mRNA decay (NMD), leading to a decrease or abolition of the level of mutated DEPDC5 transcript (PMID: 24814846). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091574 SCV001247700 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
OMIM RCV000128400 SCV000171998 pathogenic Epilepsy, familial focal, with variable foci 1 2014-05-09 no assertion criteria provided literature only
GeneReviews RCV000128400 SCV000211895 pathogenic Epilepsy, familial focal, with variable foci 1 2015-02-19 no assertion criteria provided literature only
GeneReviews RCV000128400 SCV000321065 pathogenic Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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